After exclusion of common causes of primary adrenal insufficiency (PAI), we undertook whole-exome sequencing (WES) that revealed 2 variants-a hemizygous deletion involving exons 10 to 21 of the <i>AFF2</i> gene known to cause X-linked intellectual developmental disorder-109 and a biallelic variant in the melanocortin 2 receptor gene (NM_000529.2: c.437G > A; p.Arg146His). The gene discussed is MC2R; the disease is primary adrenal insufficiency.